Monday, October 5, 2009

10.5.09 For Ellie



Okay so I have never blogged before and I swore I would never blog, yet here I am creating just that--a blog. However, I think I can be forgiven because it is for my darling little Ellie Bear-Bear. Of course, I will include updates on my beloved Drew Drew and our 3 furbabies Tama (cat), Amelie (cat), and Sophie (dog). Additionally, you might find yourself learning more about Down Syndrome than you ever thought possible. I only hope that this isn't 1. boring or 2. too long.

Many of you have asked if we got Ellie's chromosomal test results. We did and she does have trisomy 21. This means that she has three of chromosome 21 instead of two. Trisomy 21 is one of 3 causes of Down Sydrome (translocation and mosaicism being the other, more rare causes).

A Child Like Mine: A Resource for New Parents, Friends, and Family for a Child with Down Syndrome
http://www.dsact.com/images/docs/NewParent2008.pdf

This past Wed. Ellie had both her 2 week check-up and her cardiology evaluation. She gained 1/2 pound and 1/2 inch! I just knew she had been packing on the weight, the little moneky! That is what happens when you chug formula like there is no tomorrow. She has met her developmental milestones for a 2 week-old. Yay! I knew that tummy time would pay off :-P

The cardiology appointment went well. Dr. Holt is a fabulous cardiologist who actually told us the test results. I do not think he realized that we didn't know the official chromosome results yet. He handled it very well but felt bad he was the 1st to tell us. Ellie slept through her entire echocardiogram (think ultrasound of the heart). It showed a patent foramen ovale which is common in about 15% of the population. This basically means she has a small hole between the two atria or upper chambers of the heart. Dr. Holt says it is larger than normal, but should close on its own in about 6-12 months. If it does not, then Ellie Bear cannot go deep sea scuba diving or fly a fighter jet.

Okay, I think I have written enough for now. Adios!

Anna







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